List of variants reported as pathogenic for autosomal recessive disease by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	rs5030858	0.00092
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	rs111033364	0.00012
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	rs111033305	0.00006
NM_138691.3(TMC1):c.236+1G>A	rs775428246	0.00003
NM_000057.4(BLM):c.3028del (p.Asp1010fs)	rs780379121	0.00002
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)	rs786204426	0.00001
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter)	rs876657725	0.00001
NM_000092.5(COL4A4):c.4523-1G>A
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)	rs62642906
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)	rs62637006
NM_000441.2(SLC26A4):c.164+1del	rs786204504
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.156_163dup (p.Arg55fs)
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_022772.4(EPS8L2):c.1430dup (p.Val478fs)	rs758700198

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